Yang Wei, Jin Guiyang, Qian Keying, Zhang Chao, Zhi Wei, Yang Dan, Lu Yanqin, Han Jinxiang
Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Ji'nan, China.
Key Laboratory for Biotech-Drugs of National Health Commission, Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.
Intractable Rare Dis Res. 2022 May;11(2):70-80. doi: 10.5582/irdr.2022.01043.
Developmental dysplasia of the hip (DDH) is a multifactorial disease, which occurs under environmental and genetic influence. The etiopathogenesis of DDH has not been fully explained. As research progresses, many candidate genes have been found to be closely related to the occurrence of DDH. In this study, we comprehensively examined 16 susceptibility genes of DDH using bioinformatics. encodes the pro-alpha1 chains of type I collagen, which is the major protein component of the bone extracellular matrix (ECM). The genes displaying the most statistically significant co-expression link to are , , , , and . DKK1, FRZB and WISP3 are components of the Wnt signaling pathway. CX3CR1 and GDF5 regulate chondrogenesis through the canonical Wnt signaling pathway. ASPN could induce collagen mineralization through binding with collagen and calcium. Integrated bioinformatics analysis indicates that ECM, Wnt signaling pathway and TGF-β signaling pathway are involved in the occurrence of DDH. These provide a basis for further exploring the pathogenesis of DDH.
发育性髋关节发育不良（DDH）是一种多因素疾病，在环境和遗传影响下发生。DDH的病因发病机制尚未完全阐明。随着研究进展，已发现许多候选基因与DDH的发生密切相关。在本研究中，我们使用生物信息学全面检测了DDH的16个易感基因。 编码I型胶原蛋白的前α1链，其是骨细胞外基质（ECM）的主要蛋白质成分。与 显示出最具统计学意义的共表达联系的基因是 、 、 、 、 和 。DKK1、FRZB和WISP3是Wnt信号通路的组成部分。CX3CR1和GDF5通过经典Wnt信号通路调节软骨形成。ASPN可通过与胶原蛋白和钙结合诱导胶原蛋白矿化。综合生物信息学分析表明，ECM、Wnt信号通路和TGF-β信号通路参与了DDH的发生。这些为进一步探索DDH的发病机制提供了依据。
